AlphaFold predicted structure
ARHGEF28 · Q8N1W1
Mean pLDDT
61.6/ 100
Low
1,705 residues
Confidence breakdown
- Very high(≥ 90)22%
- Confident(70–90)28%
- Low(50–70)6%
- Very low(< 50)45%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ARHGEF28
Chr 5q13.2Rho guanine nucleotide exchange factor 28
- Aliases:
- RGNEF, p190RhoGEF, RIP2
- MANE:
- ENST00000513042.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Adult onset neurodegenerative disorder
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disease associations (Open Targets)
hearing loss disorder
0.51presbycusis
0.47Intrahepatic cholestasis of pregnancy
0.37Hodgkins lymphoma
0.35Sensorineural hearing impairment
0.33sensorineural hearing loss disorder
0.32disorder of ear
0.32liver disorder
0.28cholestasis, intrahepatic, of pregnancy 3
0.27venous thromboembolism
0.27
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Rho guanine nucleotide exchange factor 28
Functions as a RHOA-specific guanine nucleotide exchange factor regulating signaling pathways downstream of integrins and growth factor receptors. Functions in axonal branching, synapse formation and dendritic morphogenesis. Also functions in focal adhesion formation, cell motility and B-lymphocytes activation. May regulate NEFL expression and aggregation and play a role in apoptosis (By similarity)
Diseases associated with ARHGEF28
Curated MONDO disease pages that list ARHGEF28 among their top associated genes.